MCID: LCT008
MIFTS: 16

Lactate Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for Lactate Dehydrogenase Deficiency

MalaCards integrated aliases for Lactate Dehydrogenase Deficiency:

Name: Lactate Dehydrogenase Deficiency 53 25 73
Lactate Dehydrogenase Subunit Deficiencies 25
Deficiency of Lactate Dehydrogenase 25
Ldh Deficiency 25

Classifications:



External Ids:

UMLS 73 C0342769

Summaries for Lactate Dehydrogenase Deficiency

NIH Rare Diseases : 53 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.

MalaCards based summary : Lactate Dehydrogenase Deficiency, also known as lactate dehydrogenase subunit deficiencies, is related to glycogen storage disease due to lactate dehydrogenase deficiency and lactate dehydrogenase deficiency type c. An important gene associated with Lactate Dehydrogenase Deficiency is LDHA (Lactate Dehydrogenase A). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder.

Genetics Home Reference : 25 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.

Wikipedia : 76 Lactate dehydrogenase (LDH or LD) is an enzyme found in nearly all living cells (animals, plants, and... more...

Related Diseases for Lactate Dehydrogenase Deficiency

Diseases related to Lactate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease due to lactate dehydrogenase deficiency 12.4
2 lactate dehydrogenase deficiency type c 12.1
3 lactate dehydrogenase b deficiency 11.5
4 fanconi-bickel syndrome 11.4
5 hemolytic anemia 9.7
6 pneumonia 9.7

Graphical network of the top 20 diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to Lactate Dehydrogenase Deficiency

Symptoms & Phenotypes for Lactate Dehydrogenase Deficiency

Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

Drugs for Lactate Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

Genetic Tests for Lactate Dehydrogenase Deficiency

Anatomical Context for Lactate Dehydrogenase Deficiency

Publications for Lactate Dehydrogenase Deficiency

Articles related to Lactate Dehydrogenase Deficiency:

# Title Authors Year
1
Simultaneous production of 3-hydroxypropionic acid and 1,3-propanediol from glycerol using resting cells of the lactate dehydrogenase-deficient recombinant Klebsiella pneumoniae overexpressing an aldehyde dehydrogenase. ( 23228456 )
2013
2
Genetic and physiological analysis of the lethal effect of L-(+)-lactate dehydrogenase deficiency in Streptococcus mutans: complementation by alcohol dehydrogenase from Zymomonas mobilis. ( 8926105 )
1996
3
Evidence that L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. ( 8262650 )
1994
4
Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene. ( 8270259 )
1994
5
L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. ( 8113201 )
1994
6
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. ( 7944300 )
1994
7
Establishment of permanent chimerism in a lactate dehydrogenase-deficient mouse mutant with hemolytic anemia. ( 3315726 )
1987
8
Serotype c Streptococcus mutans mutatable to lactate dehydrogenase deficiency. ( 3912415 )
1985

Variations for Lactate Dehydrogenase Deficiency

Expression for Lactate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Lactate Dehydrogenase Deficiency.

Pathways for Lactate Dehydrogenase Deficiency

GO Terms for Lactate Dehydrogenase Deficiency

Sources for Lactate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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